AHCTF1 - AT-hook containing transcription factor 1 Gene

Also Known as ELYS; MST108; TMBS62; MSTP108

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25909

About AHCTF1

Cytogenetic location: 1q44 Genomic coordinates (GRCh38): 1:246,839,098-246,931,948 (from NCBI)

This gene has 7 transcripts (splice variants) and 207 orthologues. Broad expression in testis (RPKM 25.0), bone marrow (RPKM 11.9) and 25 other tissues.

Summary

Predicted to enable DNA binding activity. Involved in nuclear pore complex assembly and regulation of cytokinesis. Located in nuclear membrane. Colocalizes with chromatin; kinetochore; and nuclear pore outer ring. [provided by Alliance of Genome Resources, Apr 2022]

AHCTF1 Products (4)

mRNA	Protein	Name
NM_001323342.2	NP_001310271.1	protein ELYS isoform 2
NM_001323343.2	NP_001310272.1	protein ELYS isoform 3
NM_001410950.1	NP_001397879.1	protein ELYS isoform 4
NM_015446.5	NP_056261.4	protein ELYS isoform 1

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in nuclear pore complex assembly	IMP IMP: Inferred from mutant phenotype	17098863	GOA
involved in regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	17098863	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in chromatin	IDA IDA: Inferred from direct assay	17098863	GOA
colocalizes with kinetochore	IDA IDA: Inferred from direct assay	17098863	GOA
located in nuclear envelope	IDA IDA: Inferred from direct assay	24315095	GOA
part of nuclear pore	IDA IDA: Inferred from direct assay	17098863	GOA
part of nuclear pore outer ring	IDA IDA: Inferred from direct assay	17098863	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17098863	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

AHCTF1 Protein Structure

ELYS

0
400
800
1200
1600
2000
2275 a.a.

Protein Preferred Names	Protein Names
protein ELYS	ELYS transcription factor-like protein TMBS62

Related Diseases

Diseases	Alias
Mixed Fibrolamellar Hepatocellular Carcinoma
Autoimmune Lymphoproliferative Syndrome	ALPS Canale-Smith Syndrome Autoimmune Lymphoproliferative Syndrome, Type Ia Autoimmune Lymphoproliferative Syndrome, Type Ib Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant Css Autoimmune Lymphoproliferative Syndrome, Type 1b Autoimmune Lymphoproliferative Syndrome, Type 1a Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant Fas Deficiency Autoimmune Lymphoproliferative Syndrome 1a ALPS1A Autoimmune Lymphoproliferative Syndrome Type Ia Autoimmune Lymphoproliferative Syndrome 1b ALPS1B Autoimmune Lymphoproliferative Syndrome Type Ib

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00475	AHCTF1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	AHCTF1	VGNC	VGNC:25749
Canis familiaris	AHCTF1	VGNC	VGNC:37723
Mus musculus	AHCTF1	MGD	MGI:1915033
Felis catus	AHCTF1	VGNC	VGNC:59694
Macaca mulatta	AHCTF1	VGNC	VGNC:69690
Rattus norvegicus	AHCTF1	RGD	RGD:1561291
Others	AHCTF1	NCBI